ESPE Abstracts

Background: Gonadotoxic cancer therapy may cause adult male infertility. We previously reported that, of 2/3rds of underage males agreeing to pre-treatment sperm cryopreservation before cancer treatment, 2/3rds succeeded.Objective and hypotheses: i) To evaluate how many patients banking sperm successfully (GP1) returned for post treatment re-evaluation compared with those who attempted but failed (GP2). ii) To compare intergroup survival and fertility ra...

Background: The Dutch HYPOthalamic and PITuitary gene (HYPOPIT) study investigates the genetic and non-genetic causes of isolated growth hormone deficiency (IGHD) and combined pituitary hormone deficiency (CPHD). Former projects within the HYPOPIT study showed that only a small minority of the Dutch IGHD and CPHD cases could be explained by mutations in GH1, GHRHR, HMGA2 and CDK6 in IGHD patients and PROP1, HESX1, POU1F1, LHX3</...

Background: Childhood haematopoietic stem cell transplantation and total body irradiation (HSCT/TBI) survivors have multiple risk factors for reduced bone mineral density (BMD) and poor growth. Reduced z-scores from dual energy x-Ray absorptiometry (DEXA) have been reported, but are unreliable in patients with short stature/abnormal body composition.Objective: To investigate the influence of HSCT/TBI on size-corrected BMD in childhood leukaemia ...

Background: The well-documented increased cardiometabolic risk in haematopoietic stem cell transplantation and total body irradiation (HSCT/TBI) survivors is under-recognised using standard (International Diabetes Federation (IDF)) metabolic syndrome (MetS) criteria. This is defined as the presence of central adiposity using increased waist circumference (WC) or BMI, (often not abnormal in HSCT/TBI survivors despite increased central adiposity), plus additional features includ...

Introduction: Bardet-Biedl syndrome (BBS) is a rare, pleiotropic, autosomal recessive disorder, with prevalence between 1 in 100,000 – 160,000 in Europe and the USA. It is characterised by 6 cardinal features: rod-cone dystrophy, truncal obesity, cognitive impairment, hypogonadism and genitourinary anomalies, postaxial polydactyly and renal dysfunction, as well as a plethora of secondary features spanning multiple body systems. BBS belongs to a family of ...

Introduction: The metabolically healthy obese phenotype (MHOF) defines obese patients who have preserved insulin sensitivity and who do not have metabolic complications: lower risk of cardiovascular disease and type 2 diabetes in adulthood. Recent studies indicate that TMI (kg/m3) estimates the percentage of body fat more accurately than the BMI and it has been proposed to substitute the use of the BMI z-score values by those of the TMI. TMI values ...

Objectives: The SARS-CoV-2 pandemic has resulted in major cutbacks in service provision to patients. This could be detrimental to children with diabetes mellitus (DM), whose condition could deteriorate from poor access to healthcare. The lockdown has also potentially caused changes in diet, sedentary behavior and psychological burden due to the stress associated with the pandemic, which can have negative effects on glycemic control. Thus, this study compares c...

Background: Glucose monitoring is vital in children with persistent hypoglycaemia to reduce the risk of adverse neuro-behavioural outcomes1. Continuous glucose monitoring (CGM) systems provide real-time glucose levels however; information on its usefulness in monitoring glucose levels in this cohort is limited2, 3.Objective: To ascertain the effectiveness of CGM and to evaluate parents’ experie...

Inactivating mutations of ß-cell KATP channels cause the most common and severe form of congenital hyperinsulinism (HI), a ß-cell disorder that results in dysregulated insulin secretion and persistent hypoglycemia. Children with KATPHI are typically unresponsive to diazoxide, the only FDA-approved drug for HI. Octreotide, an SST2-selective agonist peptide that inhibits insulin secretion, is used as second line therapy, but poor efficacy and SST2...

Background: The genetic etiology of non-syndromic HI remains unknown in over 20% of all cases, and over 50% of diazoxide-responsive cases. Non-coding variants in HK1 have been suggested to cause HI by linkage-analysis (Pinney et al., 2008). More recently, variants within a regulatory region of HK1 intron 2 were reported in 17 individuals with HI (Wakeling et al., 2022). These variants have been proposed to cause HI by disrup...